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Childhood hearing loss

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https://www.readbyqxmd.com/read/28927774/chronic-intestinal-pseudo-obstruction-in-a-child-with-treacher-collins-syndrome
#1
E Giabicani, J Lemale, L Dainese, S Boudjemaa, A Coulomb, P Tounian, B Dubern
BACKGROUND: Treacher Collins syndrome (TCS) mainly presents with severe craniofacial developmental abnormalities characterized by a combination of bilateral downward-slanting palpebral fissures, colobomas of the lower eyelids, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss. It is due to mutations in Treacher Collins syndrome 1 (TCOF1) (5q32-q33.1) and Polymerase RNA 1 polypeptides D and C (POLR1D [13q12...
September 15, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28923429/frequency-of-auditory-involvement-and-of-associated-factors-in-patients-with-juvenile-idiopathic-arthritis
#2
Adriana Ivonne Céspedes Cruz, Myriam Méndez Núñez, Eunice Solís Vallejo, Maritza Zeferino Cruz, Alfonso Ragnar Torres Jiménez, Verónica Ocampo Sánchez, Beatriz Flores Meza, Norma Quintana Ruiz
INTRODUCTION: Juvenile idiopathic arthritis (JIA) is a chronic autoimmune disease characterized by the presence of arthritis in children under 16 years of age for more than 6 weeks in the absence of any other known cause. The extra-articular manifestations, especially in the audiovestibular system, are related to the involvement of the joints of the ossicular chain as a result of the inflammatory process in the synovium. Previous clinical studies in pediatric patients have shown conductive or sensorineural hearing loss...
September 8, 2017: Reumatología Clinica
https://www.readbyqxmd.com/read/28919117/global-regional-and-national-incidence-prevalence-and-years-lived-with-disability-for-328-diseases-and-injuries-for-195-countries-1990-2016-a-systematic-analysis-for-the-global-burden-of-disease-study-2016
#3
(no author information available yet)
BACKGROUND: As mortality rates decline, life expectancy increases, and populations age, non-fatal outcomes of diseases and injuries are becoming a larger component of the global burden of disease. The Global Burden of Diseases, Injuries, and Risk Factors Study 2016 (GBD 2016) provides a comprehensive assessment of prevalence, incidence, and years lived with disability (YLDs) for 328 causes in 195 countries and territories from 1990 to 2016. METHODS: We estimated prevalence and incidence for 328 diseases and injuries and 2982 sequelae, their non-fatal consequences...
September 16, 2017: Lancet
https://www.readbyqxmd.com/read/28888754/effect-of-antioxidant-supplementation-on-the-auditory-threshold-in-sensorineural-hearing-loss-a-meta-analysis
#4
Maria Eduarda Di Cavalcanti Alves de Souza, Klinger Vagner Teixeira da Costa, Paulo Augusto Vitorino, Nassib Bezerra Bueno, Pedro de Lemos Menezes
INTRODUCTION: Hearing loss is conceptualized as any impairment of the ability to hear and/or detect speech or environment sounds, regardless of cause, type, or degree. It may occur at different stages of life; during pregnancy or childbirth, in childhood, adulthood or old age. It should be noted that aging is the most common cause of sensorineural hearing loss followed by noise-induced hearing loss, and both are closely related to the formation of reactive oxygen species. Dietary antioxidant supplementation has been employed as a therapeutic strategy to prevent and/or delay the risks of major human diseases...
August 26, 2017: Brazilian Journal of Otorhinolaryngology
https://www.readbyqxmd.com/read/28888426/sudden-sensorineural-hearing-loss-in-children-and-adolescents-clinical-characteristics-and-age-related-prognosis
#5
Jin Youp Kim, Jae Joon Han, Woong Sang Sunwoo, Ja-Won Koo, Seung-Ha Oh, Min-Hyun Park, Young Ho Kim
OBJECTIVE: Although many studies have investigated sudden sensorineural hearing loss (SSNHL) in adults, there were few studies on SSNHL in the pediatric population; especially research on treatment and prognosis of pediatric SSNHL was limited. The aim of this study was to evaluate clinical characteristics, treatment outcomes and prognostic factors in children and adolescents with SSNHL. METHODS: A retrospective review of medical records of 67 pediatric patients (67 ears) who had diagnosed with SSNHL at our hospitals was performed to analyze patients' clinical manifestations and audiograms...
September 6, 2017: Auris, Nasus, Larynx
https://www.readbyqxmd.com/read/28876493/hearing-and-neurodevelopmental-outcomes-for-children-with-asymptomatic-congenital-cytomegalovirus-infection-a-systematic-review
#6
REVIEW
Adam W Bartlett, Brendan McMullan, William D Rawlinson, Pamela Palasanthiran
INTRODUCTION: Congenital CMV is one of the commonest congenital infections and a recognised cause of sensorineural hearing loss and neurodevelopmental impairment. Ninety percent are clinically inapparent at birth but are reported to be at risk of developing such abnormalities throughout childhood, the extent of which requires further elucidation. METHODS: A systematic literature review was conducted using Medline and Embase databases, manual citation review, and personal libraries for articles reporting primary data on hearing and neurodevelopmental outcomes for children with asymptomatic congenital CMV...
September 6, 2017: Reviews in Medical Virology
https://www.readbyqxmd.com/read/28872675/language-and-reading-comprehension-in-middle-childhood-predicts-emotional-and-behaviour-difficulties-in-adolescence-for-those-with-permanent-childhood-hearing-loss
#7
Jim Stevenson, Hannah Pimperton, Jana Kreppner, Sarah Worsfold, Emmanouela Terlektsi, Merle Mahon, Colin Kennedy
BACKGROUND: Permanent childhood hearing loss (PCHL) is associated with an elevated level of emotional and behaviour difficulties (EBD). In children and adolescents with PCHL, EBD has been found to be linked to language ability in children with PCHL. The present study was designed to test whether childhood language and/or reading comprehension abilities of children with PCHL predict subsequent EBD in adolescence. METHODS: Language comprehension (LC) and reading comprehension (RC) were measured at ages 6-10 years (Time 1) and 13-20 years (Time 2) in participants with PCHL who preferred to communicate using spoken language (n = 57) and a hearing comparison group (n = 38)...
September 5, 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28871934/diffuse-palmoplantar-keratoderma-onychodystrophy-universal-hypotrichosis-and-cysts
#8
Tasleem Arif, Syed Suhail Amin, Mohammad Adil, Mohd Mohtashim
Dear Editor, Clouston syndrome, also called hidrotic ectodermal dysplasia (HED), is an autosomal dominant ectodermal dysplasia characterized by a clinical triad of onychodystrophy, generalized hypotrichosis, and palmoplantar keratoderma (1). Herein we report the case of a 24-year-old male with the distinctive clinical triad associated with multiple epidermoid cysts, which probably reflects the phenotype of Clouston syndrome. A 24-year-old male presented to our Department with diffuse thickening of the skin of his palms and soles since infancy...
July 2017: Acta Dermatovenerologica Croatica: ADC
https://www.readbyqxmd.com/read/28864712/age-at-intervention-for-permanent-hearing-loss-and-5-year-language-outcomes
#9
Teresa Y C Ching, Harvey Dillon, Laura Button, Mark Seeto, Patricia Van Buynder, Vivienne Marnane, Linda Cupples, Greg Leigh
OBJECTIVES: Universal newborn hearing screening has been implemented to detect permanent childhood hearing loss (PCHL) early, with the ultimate goal of improving outcomes through early treatment. However, there is disagreement between studies on the size of this benefit and in some cases whether it is significantly different from 0. There have been no studies of sufficient size in which researchers have determined reliably whether the effect varies with degree of PCHL. We aimed to explore how intervention timing influences 5-year language in children with PCHL...
September 2017: Pediatrics
https://www.readbyqxmd.com/read/28863394/physical-violence-against-children-with-hearing-loss-by-parents-a-pilot-study-in-beijing-china
#10
Yingying Jiang, Jingqi Chen, Buyi Yu, Yichen Jin
This study aims to examine the rate and risk factors for physical violence (PV) by parents against hearing loss children in Beijing, China. Cross-sectional study was carried out among 86 couples of parents of hearing loss children from two special education schools in Beijing. Parents' self-reporting questionnaires were used to collect information about parental PV behaviors during the past 12 months, definition of child abuse, attitudes towards the use of corporal punishment to discipline children, parents' childhood experience of PV victimization, and demographic characteristics...
August 29, 2017: Child Abuse & Neglect
https://www.readbyqxmd.com/read/28840519/neighborhood-disadvantage-is-associated-with-high-cytomegalovirus-seroprevalence-in-pregnancy
#11
Paul M Lantos, Kate Hoffman, Sallie R Permar, Pearce Jackson, Brenna L Hughes, Amy Kind, Geeta Swamy
BACKGROUND: Cytomegalovirus (CMV) is the most common infectious cause of fetal malformations and childhood hearing loss. CMV is more common among socially disadvantaged groups, and geographically clusters in poor communities. The Area Deprivation Index (ADI) is a neighborhood-level index derived from census data that reflects material disadvantage. METHODS: We performed a geospatial analysis to determine if ADI predicts the local odds of CMV seropositivity. We analyzed a dataset of 3527 women who had been tested for CMV antibodies during pregnancy...
August 24, 2017: Journal of Racial and Ethnic Health Disparities
https://www.readbyqxmd.com/read/28820180/osteogenesis-imperfecta
#12
REVIEW
Joan C Marini, Antonella Forlino, Hans Peter Bächinger, Nick J Bishop, Peter H Byers, Anne De Paepe, Francois Fassier, Nadja Fratzl-Zelman, Kenneth M Kozloff, Deborah Krakow, Kathleen Montpetit, Oliver Semler
Skeletal deformity and bone fragility are the hallmarks of the brittle bone dysplasia osteogenesis imperfecta. The diagnosis of osteogenesis imperfecta usually depends on family history and clinical presentation characterized by a fracture (or fractures) during the prenatal period, at birth or in early childhood; genetic tests can confirm diagnosis. Osteogenesis imperfecta is caused by dominant autosomal mutations in the type I collagen coding genes (COL1A1 and COL1A2) in about 85% of individuals, affecting collagen quantity or structure...
August 18, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28815995/progressive-macrothrombocytopenia-and-hearing-loss-in-a-large-family-with-diaph1-related-disease
#13
Akira Ganaha, Tadashi Kaname, Ayano Shinjou, Yasutsugu Chinen, Kumiko Yanagi, Teruyuki Higa, Shunsuke Kondo, Mikio Suzuki
In this study, we describe a Japanese family with progressive hearing loss and macrothrombocytopenia. Using next-generation and Sanger sequencing analyses, we identified a heterozygous variant in exon 27 of the DIAPH1 gene (NM_005219), c.3637C>T, p.R1213X. All patients in the family had sensorineural hearing loss and macrothrombocytopenia. None of the patients exhibited a tendency to bleed. No pathogenic variants were found in the MYH9 gene. Hearing loss began with high-frequency loss during early childhood and progressed to severe hearing loss involving all frequencies...
August 16, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28802365/exploring-reasons-for-late-identification-of-children-with-early-onset-hearing-loss
#14
Elizabeth M Fitzpatrick, Johnny Cesconetto Dos Santos, Viviane Grandpierre, JoAnne Whittingham
INTRODUCTION: Several studies have shown that early identification of childhood hearing loss leads to better language outcomes. However, delays in the confirmation of hearing loss persist even in the presence of well-established universal newborn hearing screening programs (UNHS). The objective of this population-based study was to document the proportion of children who experienced delayed confirmation of congenital and early onset hearing loss in a UNHS program in one region of Canada...
September 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28802351/exome-sequencing-identifies-a-novel-missense-mutation-of-wfs1-as-the-cause-of-non-syndromic-low-frequency-hearing-loss-in-a-chinese-family
#15
Zhijie Niu, Yong Feng, Zhengmao Hu, Jiada Li, Jie Sun, Hongsheng Chen, Chufeng He, Xueping Wang, Lu Jiang, Yalan Liu, Xinzhang Cai, Lili Wang, Yuxiang Cai, Xuezhong Liu, Lingyun Mei
OBJECTIVE: Autosomal dominant non-syndromic low-frequency sensorineural hearing loss (LFSNHL) DFNA6/14/38 is an uncommon type of hearing loss that classically affects low frequencies of 2000 Hz and below, demonstrating an ascending configuration. The current study aimed to investigate the cause of LFSNHL in a five-generation Chinese family. METHODS: The phenotype of the Chinese family was characterized using audiologic testing and pedigree analysis. The combined approach of array screening and whole-exome sequencing was used to identify the disease-causing gene in this family...
September 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28777934/mutations-in-trappc12-manifest-in-progressive-childhood-encephalopathy-and-golgi-dysfunction
#16
Miroslav P Milev, Megan E Grout, Djenann Saint-Dic, Yong-Han Hank Cheng, Ian A Glass, Christopher J Hale, David S Hanna, Michael O Dorschner, Keshika Prematilake, Avraham Shaag, Orly Elpeleg, Michael Sacher, Dan Doherty, Simon Edvardson
Progressive childhood encephalopathy is an etiologically heterogeneous condition characterized by progressive central nervous system dysfunction in association with a broad range of morbidity and mortality. The causes of encephalopathy can be either non-genetic or genetic. Identifying the genetic causes and dissecting the underlying mechanisms are critical to understanding brain development and improving treatments. Here, we report that variants in TRAPPC12 result in progressive childhood encephalopathy. Three individuals from two unrelated families have either a homozygous deleterious variant (c...
August 3, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28750130/prevalence-of-hearing-loss-among-children-9-to-11-years-old-the-generation-r-study
#17
Carlijn M P le Clercq, Gijs van Ingen, Liesbet Ruytjens, André Goedegebure, Henriette A Moll, Hein Raat, Vincent W V Jaddoe, Rob J Baatenburg de Jong, Marc P van der Schroeff
Importance: Hearing loss (HL), a major cause of disability globally, negatively affects both personal and professional life. Objective: To describe the prevalence of sensorineural hearing loss (SNHL) among a population-based cohort of 9- to 11-year-old children, and to examine potential associations between purported risk factors and SNHL in early childhood. Design, Setting, and Participants: The study was among the general, nonclinical, pediatric community within the city of Rotterdam, the Netherlands, and was conducted between 2012 and 2015 as a cross-sectional assessment within the Generation R Study, a population-based longitudinal cohort study from fetal life until adulthood...
September 1, 2017: JAMA Otolaryngology—Head & Neck Surgery
https://www.readbyqxmd.com/read/28738350/unilateral-sensorineural-hearing-loss-medical-context-and-etiology
#18
Antoine Paul, Sandrine Marlin, Marine Parodi, Isabelle Rouillon, Joanne Guerlain, Véronique Pingault, Vincent Couloigner, Erea Noel Garabedian, Françoise Denoyelle, Natalie Loundon
OBJECTIVE: Unilateral sensorineural hearing loss (USNHL) is known to impact on school performance and social skills during childhood, but the etiologies remain unclear. The aim of this study was to assess various etiologies and to study the clinical contexts in this population. METHODS: The study is a retrospective review. Characteristics of hearing loss (HL), audiometric parameters, imaging, and genetic and medical contexts were analyzed. RESULTS: Eighty children were included...
2017: Audiology & Neuro-otology
https://www.readbyqxmd.com/read/28737048/ototoxicity-monitoring-in-children-treated-with-platinum-chemotherapy
#19
Beth Brooks, Kristin Knight
OBJECTIVE: To review the prevalence, mechanisms, clinical presentation, risk factors and implications of platinum-induced ototoxicity in paediatric cancer patients based on published evidence, discuss options for monitoring hearing in young children during treatment and review long-term follow-up guidelines. DESIGN: Narrative literature review. RESULTS: Children treated with cisplatin are at high risk of hearing loss and early, accurate identification of ototoxicity is important for medical decision making and hearing rehabilitation...
July 24, 2017: International Journal of Audiology
https://www.readbyqxmd.com/read/28724398/whole-genome-sequencing-identifies-a-novel-alms1-gene-mutation-in-two-chinese-siblings-with-alstr%C3%A3-m-syndrome
#20
Lin Yang, Zixiu Li, Mei Mei, Xiaomei Fan, Guodong Zhan, Huijun Wang, Guoying Huang, Mingbang Wang, Weidong Tian, Wenhao Zhou
BACKGROUND: Alström syndrome is a rare multi-systemic disorder with a broad spectrum of symptoms. This syndrome is characterized by childhood retinal degeneration; sensorineural hearing loss; obesity; type 2 diabetes mellitus; cardiomyopathy; systemic fibrosis; and pulmonary, hepatic, and renal failure. CASE PRESENTATION: A Chinese quartet family with two siblings predominantly affected by cone-rod dystrophy and short stature were recruited. The craniofacial dysmorphism and on-set age-of-cone-rod dystrophy in the proband showed a minor intrafamilial variability...
July 19, 2017: BMC Medical Genetics
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